title: Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy.
authors.affiliation: Istituto di Clinica E Biologia dell'Eta' Evolutuva, Università degli studi di Cagliari, Italy.
authors.forename: M A
authors.initials: MA
authors.lastname: Melis
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: M
authors.initials: M
authors.lastname: Cau
authors.forename: D
authors.initials: D
authors.lastname: Loi
authors.forename: A
authors.initials: A
authors.lastname: Puddu
authors.forename: L
authors.initials: L
authors.lastname: Boccone
authors.forename: A
authors.initials: A
authors.lastname: Mateddu
authors.forename: C
authors.initials: C
authors.lastname: Cianchetti
authors.forename: A
authors.initials: A
authors.lastname: Cao
mesh_terms: D002675:Child, Preschool; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005192:Family Health; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D012694:Serine
chemical_list: D018388:Codon, Terminator; D018076:DNA, Complementary; D016189:Dystrophin; D012694:Serine